A case report of pediatric neurotrophic keratopathy in pontine tegmental cap dysplasia treated with cenegermin eye drops

Abstract

Rationale: To report the management of recalcitrant neurotrophic keratopathy in a pediatric patient affected by pontine tegmental cap dysplasia (PTCD) using topical human recombinant nerve growth factor (hrNGF, Cenegermin 20 μg/ml). To the best of our knowledge the present case is one of the few described in patients with congenital NK treated with Cenegermin, and the first in a patient affected by PTCD. Patient Concerns: A 9-year-old patient, affected by PTCD with bilateral cranial nerve V 1 and VIII palsies, was referred to our hospital for visual disturbances and redness of the right eye due to persistent neurotrophic epithelial defect. The patient presented marked developmental delay, ataxia, bilateral hypoacusia, and bilateral corneal severe hypoaesthesia. Ocular history revealed multiple treatments in order to treat neurotrophic ulcer in the left eye. Four years later, he developed a persistent epithelial defect with corneal anesthesia in the right eye. Diagnoses: The impaired trigeminal nerve function, due to the underlying congenital disease, led to the development of moderate NK (stage II) in the right eye and a mild NK (stage I) in the left eye. Interventions: Cenegermin 20 μg/ml eye-drop was administered in both eyes. Treatment was continued for 8 weeks. The patient was assessed after 4 and 8 week of treatment. At each follow-up visit, treatment efficacy and adverse events were evaluated. Outcomes: The use of Cenegermin eye drops facilitated the remarkable resolution of the neurotrophic keratopathy and the improvement of corneal sensitivity in both eyes. No local or systemic adverse events were observed. Lessons: Topical Cenegermin 20 μg/ml was well-tolerated and may represent a valuable therapeutic option in the management of pediatric neurotrophic keratopathy.

Maternal serum eye drops to treat bilateral neurotrophic keratopathy in congenital corneal anesthesia: Case report and literature review

“…Pediatric NK represents a real therapeutic challenge due to the lack of response to conventional treatment and the poor long-term anatomical and functional prognosis; furthermore, only off-label therapies are available to treat such condition in an effective way. 10 , 11 The onset of NK in the pediatric age adds also a further risk of severe amblyopia. Recent advances both in medical and surgical interventions have made corneal reinnervation and restoration of vision more easily attainable in pediatric patients.…”

“…On one hand, various case reports showed the successful outcomes of this treatment in pediatric NK owing to different etiologies. 10 , 13 , 14 , 15 , 16 , 17 On the other hand, a recent case series (9 eyes of 8 pediatric patients) provided modest support for the efficacy of NGF in this setting, reporting an improvement of corneal ulcer stage in 5 eyes and best-corrected visual acuity in 2 eyes. 7 However, in our case it was not possible to use this drug and obtain its reimbursement due to local regulatory issues.…”

“…Two weeks later, conjunctival hyperemia was less intense but the clinical feature remained approximately unchanged in BE. We explored the possibility of prescribing NGF eye drops that have been recently used with success in other similar pediatric cases, 9 , 10 but it was not possible to prescribe the drug and receive its reimbursement due to local regulatory issues. Therefore, we opted for the preparation and dispensation of allogeneic peripheral blood serum (PBS) eye drops obtained from the mother who was ABO-identical to the child.…”

Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?

“…Cenegermin efficacy and safety has been already demonstrated in a couple of pediatric cases [ 20 , 21 , 22 ]. Complete healing of the corneal epithelium defect was observed in a 3-year-old boy with neurotrophic keratitis due to rhabdomyosarcoma surgery of the jaw [ 22 ].…”

“…Complete healing of the corneal epithelium defect was observed in a 3-year-old boy with neurotrophic keratitis due to rhabdomyosarcoma surgery of the jaw [ 22 ]. The healing of the persistent corneal epithelial defect, the resolution of the opacity and the improvement of corneal sensitivity were observed in a nine-year-old patient with pontine tegmental cap dysplasia [ 20 ]. Complete healing was achieved in both eyes after Cenegermin use for bilateral neurotrophic keratopathy in CCA: during the 16 months follow-up, no recurrence was noticed and corneal opacities gradually became clearer.…”